Glutaric acidemia type II patient with thalassemia minor and novel electron transfer flavoprotein-A gene mutations: A case report and review of literature

Table 1 Laboratory tests on the 22^nd day after birth

Biochemical data	Patient results	Reference range
ALT (IU/L)	55 ↑	13-45
AST (IU/L)	63	18-69
ALP (IU/L)	252	107-474
CK (IU/L)	139	43-474
Urea (mg/dL)	14	2.1-34
CRE (mg/dL)	0.3	0.3-0.8
Lactate (mmol/L)	23.4	17-24
Ammonia (μmol/L)	103 ↑	16-68
HCO3 (mmol/L)	18.3	17-24
Ca (mg/dL)	10.7	8.4-11.9
P (mg/dL)	5.9	3.1-7.7

ALT: Alanine aminotransferase; AST: Aspartate aminotransferase; ALP: Alkaline phosphatase; CK: Creatine kinase; CRE: Creatinine.

Table 2 Dried blood spot acylcarnitine results

Blood acylcarnitine concentrations (μmol/L)	Patient	Reference range
Free carnitine (C0)	5.46 ↓	8.60-90.0
Acetylcarnitine (C2)	3.86 ↓	8.00-73.4
Propionylcarnitine (C3)	0.20 N	< 6.800
Butyrlycarnitine (C4)	2.25 ↑	< 1.200
Isovalerylcarnitine (C5)	0.18 N	< 0.600
Glutarylcarnitine (C5DC)	0.27 ↑	< 0.210
Hexanoylcarnitine (C6)	0.52 ↑	< 0.210
Octanoylcarnitine (C8)	2.77 ↑	< 0.320
Decanoylcarnitine (C10)	2.18 ↑	< 0.480
Dodecanoylcarnitine (C12)	1.37 ↑	< 0.690
Tetradecanoylcarnitine (C14)	0.57 N	< 0.800
Hexadecanoylcarnitine (C16)	0.69 N	< 8.700
Octadecenoylcarnitine (C18)	0.76 N	< 2.240